DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11695471
rs11695471 		0.925 0.080 2 25234839 intron variant T/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11695471
rs11695471 		0.925 0.080 2 25234839 intron variant T/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs13420827
rs13420827 		0.882 0.160 2 25231099 3 prime UTR variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs13420827
rs13420827 		0.882 0.160 2 25231099 3 prime UTR variant C/G;T snv
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C2242595
Disease: Mucosal atrophy
Mucosal atrophy 		0.010 < 0.001 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs1431156021
rs1431156021 		0.925 0.120 2 25243904 missense variant C/T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs1431156021
rs1431156021 		0.925 0.120 2 25243904 missense variant C/T snv
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1456725200
rs1456725200 		1.000 0.040 2 25246661 missense variant C/A;T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015